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  • Title: Ring chromosome 6: case report and review of literature.
    Author: Kini KR, Van Dyke DL, Weiss L, Logan MS.
    Journal: Hum Genet; 1979; 50(2):145-9. PubMed ID: 511129.
    Abstract:
    A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies. Cytogenetic studies indicate the instability of the ring chromosome. The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and micrognathia. Linkage studies, including HLA, are consistent with reported maps of chromosome 6.
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